Publications by authors named "Luiza D Chaves"
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the population worldwide. Extreme skewing of X-chromosome inactivation (XCI) can be associated with ID phenotypes caused by pathogenic variants in the X chromosome. We analyzed the XCI pattern in blood samples of 194 women with idiopathic ID, using the androgen receptor gene (AR) methylation assay.
View Article and Find Full Text PDFGenetic investigation of syndromic forms of obesity.
Laura Machado Lara Carvalho
,
Carla Sustek D'Angelo
,
Darine Villela
,
Silvia Souza da Costa
,
Alexander Augusto de Lima Jorge
,
Luiza Dias Chaves
Int J Obes (Lond)
September 2022
Article Synopsis
- Syndromic obesity (SO) involves obesity alongside other conditions like intellectual disability and is characterized by high genetic variability, with many unknown genetic causes.* -
- This study analyzed 20 SO patients using whole-exome sequencing and identified pathogenic genetic variants in 6 out of 20 patients, while observing additional variants of uncertain significance.* -
- The research highlights that several genes linked to syndromic intellectual disability may also be associated with obesity, achieving a diagnostic success rate of approximately 47% in the patient cohort.*